The Toll on Our Children and Families
These are stories from SCN8A parents who have opened up to share some of the most challenging and scary parts of having a child with or losing a child to SCN8A-Related Epilepsy.
By sharing these stories, we hope to illuminate the struggles of life with SCN8A-related epilepsy and make it clear to decision-makers the constant fear we live in and the pain our children endure without targeted treatments.
Click on each family collage below to hear their story
“I envision telling his sister that Elliott’s gone. It scares the heck out of me. But he’s so fragile that there’s a distinct reality that it could happen to him – at any moment. A lot of children with SCN8A are dying and we definitely need treatments. We desperately need life-altering treatments that will not just get rid of the seizures but will help our children to grow and prosper. And live a life that is more than just lying on a bed, lying on a mat, getting fed through a tube. He deserves more. All our children deserve more.”
Gabi, Elliott's mother
Elliott is 8 years old and lives in Washington, D.C.
“This is Connor’s kitchen and Connor’s medicine cabinet. No 10-year-old should need their entire cabinet in the kitchen for medications. But when you have difficulty treating epilepsy, you do…We implore you to invest in an area giving Connor a specific medication for SCN8A.
Krista, Connor’s mother
Connor is 10 years old and lives in Virginia
“Our children are dying. Our children are dying from this disease. This is a terrible life-sucking disease. It sucks the life out of our children. Our children are suffering. Our children are dying. Our children are seizing. Our children are in pain. Our children’s stomachs don’t empty out. My son can’t run and play with his brothers and sisters. Something needs to be done. I don’t know what research or what medicine, but we need to have a cure. I am begging whoever is listening to this to please work your hardest at finding something for our children.”
Tammy, Liam's mother
Liam is 6 years old and lives in Michigan
“We spent a majority of the first two and a half years in and out of the hospital, sometimes twice a day and sometimes a week at a time, countless ambulance rides and airlifts. No child should have to endure a life like this.”
Alisha, Clayton's mother
Clayton is 6 years old and lives in California
“At 13 months Jake was seizing uncontrollably. Nothing could stop them and we were told to be prepared to lose him… 2-3 months later we were told Jake had an SCN8A mutation and we should try all the sodium channel drugs. They provided some help where we could go a day without a seizure…but one day without a seizure is not life…Watching your child suffer endlessly is not life…the endless drugs that I had to give him to stop seizing caused such detrimental side effects …that were often worse than the seizures…I was at a place where my son was suffering every minute of his life that I had to let him go. No parent should ever have to choose that.
That is why new medicines must be in place. I’m asking you to help us – to help children like my son – to help the future children. I never want another mother to live what I lived. I never want another child to have to endure what my child did.”
Britani, Jake's mother
Jake passed away at age 3 in 2016
“He filled our lives with joy. He made us smile. My children do smile without him, we do, but we are not the same. There’s a giant piece of us all missing…This is a tough mutation and a tough disease. I really hope there are medications out there that can treat the actual channel and not just the symptoms. And that there are better outcomes.”
Elizbeth, Declan's mother
Declan passed away at age 6 in 2018
Receiving a diagnosis of SCN8A can be overwhelming and likely leaves you with countless unanswered questions. While sadly much remains unknown about the basic science of SCN8A, its treatment, or prognosis, a great deal has been learned since its discovery by Dr. Hammer in 2011. We have an ongoing commitment to help disseminate and translate new understanding of how to best treat this complex, important and very diverse disorder.
Sign up to get a copy of our pamphlet on “A Guide for Newly Diagnosed SCN8A families. The guide outlines many specific steps that can ease your journey. This compilation of advice Dr. Hammer, leading SCN8A clinicians, and from families like you shares some strategies to get your arms around this frightening diagnosis and getting some peace of mind that you are getting the best care for your child.
Our single most important message is that you are not alone. All of us have been there and have lived through the fear, anxiety, frustration, anger, denial, despair, and grief. The journey, how you feel, and what you choose to focus on will be uniquely yours – but it will be important to remember that other families are out there and want to welcome you to our intimate community of fellow SCN8A parents and caregivers.
FDA Response to Our Submission in Support of SCN8A Drug Development
The stories that were conveyed, including your own, Dr. Hammer’s, and the other families who shared their comments, are deeply moving, and I am tremendously grateful for your sharing them.
We are eager to work with IND [Investigational New Drug] sponsors to facilitate the development of treatments for this condition. The empiric data that you have generated clearly reinforce the unmet need for effective treatments. I will say that I have hope that the pace of such development programs will accelerate as we see rapid advancements in our ability to target the underlying pathophysiology in this and other genetic epilepsy syndromes.
– Nick Kozauer, Director, Division of Neurology II Office of Neuroscience
Center for Drug Evaluation and Research at the Food and Drug Administration